Annotation Detail

Information

Associated Genes: GBA1 LOC106627981
Associated Variants: GBA1 p.Asn409Ser (p.N409S) ( ENST00000427500.7, ENST00000368373.8, ENST00000428024.3, ENST00000327247.9 )
GBA1 p.Asn409Ser (p.N409S) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 )
Associated Disease: Dementia, Lewy body, susceptibility to
Source Database: ClinVar
Description: NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Dementia, Lewy body, susceptibility to
ClinVar Allele ID: 19329
ClinVar RefSeq Alternation Syntax: NM_000157.4:c.1226A>G
ClinVar RefSeq Alternation Syntax: NM_001005742.3:c.1226A>G
ClinVar RefSeq Alternation Syntax: NM_001005741.3:c.1226A>G
ClinVar RefSeq Alternation Syntax: NM_001171811.2:c.965A>G
ClinVar RefSeq Alternation Syntax: NM_001171812.2:c.1079A>G
Clinical Significance Description: risk factor
Clinical Significance Last Update: 2010-08-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000004517
ClinVar Disease: Dementia, Lewy body, susceptibility to
Observed Origin Sample: germline
Pubmed: 8450045
Pubmed: 18332251
Pubmed: 1348297
Pubmed: 9554746
Pubmed: 1897529
Pubmed: 1899336
Pubmed: 2117855
Pubmed: 2309702
Pubmed: 8516282
Pubmed: 7789963
Pubmed: 2569551
Pubmed: 3353383
Pubmed: 8487270
Pubmed: 19286695
Pubmed: 10796875
Pubmed: 20662857
Pubmed: 1971142

Drugs